Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Oasl1'

188405

Institutional Source

Beutler Lab

Gene Symbol

Oasl1

Ensembl Gene

ENSMUSG00000041827

Gene Name

2'-5' oligoadenylate synthetase-like 1

Synonyms

7530414C13Rik

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115061299-115075974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115074003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 304 (D304G)

Ref Sequence

ENSEMBL: ENSMUSP00000107771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031540] [ENSMUST00000112143]

AlphaFold

Q8VI94

Predicted Effect

probably damaging
Transcript: ENSMUST00000031540
AA Change: D304G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031540
Gene: ENSMUSG00000041827
AA Change: D304G

Domain	Start	End	E-Value	Type
low complexity region	31	42	N/A	INTRINSIC
Pfam:OAS1_C	162	348	8e-76	PFAM
UBQ	350	425	1.58e0	SMART
UBQ	430	501	2.22e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112143
AA Change: D304G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107771
Gene: ENSMUSG00000041827
AA Change: D304G

Domain	Start	End	E-Value	Type
low complexity region	31	42	N/A	INTRINSIC
Pfam:OAS1_C	163	346	1.9e-79	PFAM
UBQ	350	425	1.58e0	SMART
UBQ	430	501	2.22e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155394

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice with a deletion of this gene have increased expression of type I interferon and show increased resistance to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Ahnak	T	A	19: 8,987,327 (GRCm39)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,655,080 (GRCm39)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,106,521 (GRCm39)	D827V	probably damaging	Het
Bcat1	T	G	6: 144,985,354 (GRCm39)	D96A	probably damaging	Het
Birc6	A	T	17: 74,855,741 (GRCm39)	I184L	probably benign	Het
Clca3b	A	T	3: 144,543,585 (GRCm39)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,728,183 (GRCm39)	V617A	probably benign	Het
Col22a1	G	A	15: 71,671,210 (GRCm39)	A1050V	unknown	Het
Col5a3	C	T	9: 20,695,964 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,604,566 (GRCm39)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 161,838,545 (GRCm39)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,923,361 (GRCm39)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,497,103 (GRCm39)	Y710H	probably benign	Het
Eef1a2	A	T	2: 180,794,734 (GRCm39)	M155K	possibly damaging	Het
Entpd8	G	A	2: 24,974,036 (GRCm39)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,552,722 (GRCm39)	L1072R	probably damaging	Het
Fhip2b	T	C	14: 70,824,291 (GRCm39)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,331,212 (GRCm39)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,699,491 (GRCm39)	S617P	probably damaging	Het
Ice1	T	C	13: 70,753,567 (GRCm39)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,390,953 (GRCm39)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,353,274 (GRCm39)		probably null	Het
Ireb2	C	T	9: 54,788,802 (GRCm39)	T92I	probably damaging	Het
Itprid1	C	T	6: 55,945,751 (GRCm39)	T824I	probably damaging	Het
Kcnj8	A	T	6: 142,515,915 (GRCm39)	L64*	probably null	Het
Mapk8ip3	A	G	17: 25,119,985 (GRCm39)	V983A	probably damaging	Het
Mertk	A	G	2: 128,643,556 (GRCm39)	D985G	probably benign	Het
Mical3	A	T	6: 120,936,604 (GRCm39)	S1307R	probably benign	Het
Mtcl3	A	T	10: 29,072,835 (GRCm39)	Q709L	probably damaging	Het
Ncaph2	A	G	15: 89,248,825 (GRCm39)	D222G	probably benign	Het
Nf1	C	A	11: 79,441,824 (GRCm39)	S295*	probably null	Het
Nlrp12	T	A	7: 3,289,804 (GRCm39)	D236V	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or52i2	A	G	7: 102,319,940 (GRCm39)	D271G	possibly damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Or8g22	T	C	9: 38,958,296 (GRCm39)	I140V	probably benign	Het
Or8h8	C	T	2: 86,753,505 (GRCm39)	V124I	probably benign	Het
Patz1	A	G	11: 3,257,812 (GRCm39)	K604E	probably damaging	Het
Pcsk6	T	A	7: 65,684,998 (GRCm39)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,108,231 (GRCm39)		probably null	Het
Plxnc1	A	C	10: 94,677,413 (GRCm39)	L938R	probably benign	Het
Pou4f2	G	T	8: 79,161,460 (GRCm39)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,735,087 (GRCm39)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,690,206 (GRCm39)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,016,703 (GRCm39)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,087,707 (GRCm39)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,682,262 (GRCm39)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc5a6	A	G	5: 31,199,988 (GRCm39)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,145,391 (GRCm39)	I492T	probably damaging	Het
Spag5	A	G	11: 78,211,442 (GRCm39)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,109,371 (GRCm39)	I75L	possibly damaging	Het
Syngap1	T	C	17: 27,171,553 (GRCm39)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,335 (GRCm39)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm39)	V102A	probably benign	Het
Tomm70a	T	C	16: 56,942,324 (GRCm39)	S34P	unknown	Het
Txlnb	G	T	10: 17,718,981 (GRCm39)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,683,483 (GRCm39)	T143A	probably benign	Het
Unc80	C	T	1: 66,542,828 (GRCm39)	R361*	probably null	Het
Vcan	T	C	13: 89,851,666 (GRCm39)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,534,806 (GRCm39)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,345,249 (GRCm39)	R6K	probably benign	Het
Zan	T	A	5: 137,401,312 (GRCm39)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,227,898 (GRCm39)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,510,617 (GRCm39)	N433K	probably benign	Het

Other mutations in Oasl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Oasl1	APN	5	115,075,466 (GRCm39)	missense	probably benign	0.01
IGL02061:Oasl1	APN	5	115,061,651 (GRCm39)	missense	probably damaging	0.97
IGL02888:Oasl1	APN	5	115,075,241 (GRCm39)	missense	probably damaging	1.00
IGL03230:Oasl1	APN	5	115,075,115 (GRCm39)	missense	probably damaging	1.00
ammonite	UTSW	5	115,074,996 (GRCm39)	missense	probably damaging	1.00
dreadnaught	UTSW	5	115,074,129 (GRCm39)	critical splice donor site	probably null
nautilus	UTSW	5	115,075,242 (GRCm39)	missense	probably damaging	1.00
spirogyra	UTSW	5	115,075,465 (GRCm39)	missense	probably benign	0.00
IGL03048:Oasl1	UTSW	5	115,075,400 (GRCm39)	missense	possibly damaging	0.56
R1510:Oasl1	UTSW	5	115,066,167 (GRCm39)	missense	probably benign	0.00
R1918:Oasl1	UTSW	5	115,061,528 (GRCm39)	missense	possibly damaging	0.84
R2090:Oasl1	UTSW	5	115,073,993 (GRCm39)	missense	probably damaging	1.00
R3977:Oasl1	UTSW	5	115,070,957 (GRCm39)	missense	probably damaging	1.00
R3978:Oasl1	UTSW	5	115,070,957 (GRCm39)	missense	probably damaging	1.00
R3980:Oasl1	UTSW	5	115,070,957 (GRCm39)	missense	probably damaging	1.00
R4158:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4159:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4160:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4161:Oasl1	UTSW	5	115,075,073 (GRCm39)	missense	possibly damaging	0.77
R4797:Oasl1	UTSW	5	115,066,217 (GRCm39)	missense	probably benign	0.00
R5354:Oasl1	UTSW	5	115,075,055 (GRCm39)	missense	probably damaging	1.00
R5443:Oasl1	UTSW	5	115,074,129 (GRCm39)	critical splice donor site	probably null
R5820:Oasl1	UTSW	5	115,075,037 (GRCm39)	missense	possibly damaging	0.94
R5919:Oasl1	UTSW	5	115,066,329 (GRCm39)	missense	probably damaging	1.00
R6746:Oasl1	UTSW	5	115,075,242 (GRCm39)	missense	probably damaging	1.00
R7471:Oasl1	UTSW	5	115,073,985 (GRCm39)	missense	probably damaging	1.00
R7720:Oasl1	UTSW	5	115,067,980 (GRCm39)	missense	probably damaging	1.00
R7766:Oasl1	UTSW	5	115,075,169 (GRCm39)	missense	probably damaging	1.00
R8115:Oasl1	UTSW	5	115,074,996 (GRCm39)	missense	probably damaging	1.00
R8243:Oasl1	UTSW	5	115,066,220 (GRCm39)	missense	probably benign	0.04
R8358:Oasl1	UTSW	5	115,075,465 (GRCm39)	missense	probably benign	0.00
R9566:Oasl1	UTSW	5	115,066,331 (GRCm39)	missense	probably benign	0.02
R9695:Oasl1	UTSW	5	115,074,054 (GRCm39)	missense	probably damaging	1.00
Z1177:Oasl1	UTSW	5	115,070,804 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TTCCAGGACCCAGTTTACAGCCTC -3'
(R):5'- TGCCTCTGAAAAGCTGTTCCCC -3'

Sequencing Primer
(F):5'- TCTGCACTTCCCGGAATG -3'
(R):5'- GAAAAGCTGTTCCCCACTTTG -3'

Posted On

2014-05-09